A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv300e199



Internal ID20123602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71492565..71496612hg38UCSC Ensembl
chr12:71886345..71890392hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg384048
hg194048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670534, esv2671769
SamplesNA18502, NA19466, NA19332, NA19704, HG01188, NA19359, NA19092, NA18486, NA18504, NA19190, NA19131, NA18916, NA19457, NA18498, NA20336, NA19904, HG01067, NA19917, NA19137, NA19172, NA18520, NA19209, NA19445, NA19985, NA18867, NA19200, NA19908, NA19210, NA19391, NA19236, NA19982, NA19225, NA18523, NA19469, NA18909, NA19108, NA19147, NA18517, NA19434, NA19444, NA19467, NA20281, NA20348, NA19223, NA20334, NA19474, NA19213, HG01377, NA19430, NA18505, NA20322
Known GenesLGR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv300e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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